Variant report

Variant	nsv438058
Chromosome Location	chr8:59305833-59318448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59317685..59319792-chr8:59322878..59325886,3	K562	blood:
2	chr8:59308707..59310940-chr8:59311136..59313539,2	MCF-7	breast:
3	chr8:59301456..59304791-chr8:59307083..59310063,3	K562	blood:
4	chr8:59311565..59318408-chr8:59321093..59327197,8	K562	blood:
5	chr8:58487549..58488499-chr8:59307870..59308447,3	MCF-7	breast:
6	chr8:58489820..58490346-chr8:59307522..59308461,2	MCF-7	breast:
7	chr8:58332845..58333756-chr8:59307075..59308444,4	K562	blood:
8	chr8:59309029..59311311-chr8:59328831..59330958,2	K562	blood:
9	chr8:58909465..58910078-chr8:59307539..59308168,2	K562	blood:
10	chr8:59308707..59310940-chr8:59311136..59313539,2	MCF-7	breast:
11	chr8:59302414..59305094-chr8:59305582..59308397,2	K562	blood:
12	chr8:59312188..59313765-chr8:59465635..59467141,2	K562	blood:
13	chr8:59311092..59312732-chr8:59325481..59327752,2	K562	blood:
14	chr8:58405000..58405657-chr8:59307471..59308283,2	MCF-7	breast:
15	chr8:59230596..59231330-chr8:59307984..59308748,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253821	chromatin interactions
ENSG00000215114	chromatin interactions
ENSG00000137575	chromatin interactions

Extended variants
information (count: 473 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs930872	chr8:59305833-59305834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550319884	chr8:59305835-59305836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545490288	chr8:59305853-59305854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370169671	chr8:59305902-59305903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149388914	chr8:59305906-59305907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529087865	chr8:59305931-59305932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1457049	chr8:59305974-59305975	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565882605	chr8:59305976-59305977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144013789	chr8:59305979-59305980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550998516	chr8:59305981-59305982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148672909	chr8:59306059-59306060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10504253	chr8:59306095-59306096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556786195	chr8:59306131-59306132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548141846	chr8:59306188-59306189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386725895	chr8:59306277-59306278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190985159	chr8:59306306-59306307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573668079	chr8:59306323-59306324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142178819	chr8:59306373-59306374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2875835	chr8:59306427-59306428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555905137	chr8:59306432-59306433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12115131	chr8:59306447-59306448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs541760325	chr8:59306474-59306475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527570100	chr8:59306481-59306482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547743902	chr8:59306493-59306494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199777677	chr8:59306495-59306496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564740548	chr8:59306527-59306528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578072458	chr8:59306602-59306603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543760060	chr8:59306615-59306616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570660063	chr8:59306664-59306665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372184408	chr8:59306693-59306694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183166182	chr8:59306747-59306748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117274559	chr8:59306762-59306763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16923417	chr8:59306767-59306768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548935153	chr8:59306790-59306791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs897737	chr8:59306803-59306804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528239492	chr8:59306815-59306816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs897736	chr8:59306828-59306829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529384928	chr8:59306829-59306830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138865812	chr8:59306833-59306834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571165431	chr8:59306906-59306907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377417658	chr8:59306945-59306946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191543338	chr8:59306954-59306955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147838513	chr8:59306994-59306995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554090017	chr8:59307025-59307026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577130060	chr8:59307057-59307058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139779638	chr8:59307074-59307075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370906613	chr8:59307093-59307094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183473919	chr8:59307168-59307169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113221031	chr8:59307175-59307176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552757839	chr8:59307176-59307177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59305000-59306600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:59305200-59306200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:59305200-59306200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:59305400-59306000	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:59305600-59306200	Enhancers	HSMMtube	muscle
6	chr8:59305600-59309000	Weak transcription	Right Atrium	heart
7	chr8:59305800-59308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:59305800-59308200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:59306000-59308000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:59306200-59307400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:59306200-59307400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:59306600-59307000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:59307000-59308000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:59307200-59307800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:59307400-59307800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:59307400-59308200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:59307400-59308200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:59307400-59308400	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:59307400-59308600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:59307400-59309400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:59307400-59309600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:59307600-59308600	Enhancers	Fetal Brain Male	brain
23	chr8:59307600-59309800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:59308000-59308200	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:59308000-59308200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:59308000-59308200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr8:59308000-59308400	Enhancers	Primary T cells from cord blood	blood
28	chr8:59308000-59308400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:59308000-59308400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:59308000-59308400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:59308000-59308400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:59308000-59308400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:59308000-59308400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:59308000-59308400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:59308000-59308400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:59308000-59308400	Enhancers	HSMM	muscle
37	chr8:59308000-59308600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:59308000-59308600	Enhancers	Brain Substantia Nigra	brain
39	chr8:59308000-59308600	Enhancers	Fetal Stomach	stomach
40	chr8:59308000-59308800	Enhancers	Brain Anterior Caudate	brain
41	chr8:59308000-59309400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:59308000-59309400	Enhancers	HepG2	liver
43	chr8:59308000-59309600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:59308000-59309600	Enhancers	Fetal Lung	lung
45	chr8:59308000-59309800	Enhancers	Colon Smooth Muscle	Colon
46	chr8:59308000-59310800	Enhancers	Primary hematopoietic stem cells	blood
47	chr8:59308000-59311200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr8:59308200-59308400	Enhancers	Fetal Muscle Leg	muscle
49	chr8:59308200-59308600	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:59308200-59308800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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